Clinical and molecular characterization of patients with YWHAG‐related epilepsy by Cetica, Valentina, Pisano, Tiziana, Lesca, Gaetan, Marafi, Dana, Licchetta, Laura, Riccardi, Florence, Mei, Davide, Chung, Hon‐yin B., Bayat, Allan, Balasubramanian, Meena, Lowenstein, Daniel H., Endzinienė, Milda, Alotaibi, Maha, Villeneuve, Nathalie, Jacobs, Julia, Isidor, Bertrand, Solazzi, Roberta, Hollander, Nicolette S., Marjanovic, Dragan, Rougeot‐Jung, Christelle, Jung, Julien, Lesieur‐Sebellin, Marion, Accogli, Andrea, Salpietro, Vincenzo, Saadi, Nebal W., Panagiotakaki, Eleni, Foiadelli, Thomas, Redon, Sylvia, Tsai, Meng‐Han, Bisulli, Francesca, Hammer, Trine B., Lupski, James R., Parrini, Elena, Guerrini, Renzo, Alotaibi, Lena, Ambrosetti, Irene, Bellanger, Séverine A., Castellotti, Barbara, Cavallin, Mara, Chan, Joshua C. K., Chatron, Nicolas, Chavany, Julie, Cogne, Benjamin, Fung, Jasmine L. F., Gjerulfsen, Cathrine E., Granata, Tiziana, Guimier, Anne, Herman, Isabella, Ho, Chen‐Jui, Mandorlini, Claudia, Milh, Mathieu, Minardi, Raffaella, Montanari, Francesca, Rosenfeld, Jill A., Moller, Rikke S., Operto, Francesca F., Posey, Jennifer E., Ruivenkamp, Claudia A. L., Sacaze, Elise, Santi, Viola, Savasta, Salvatore, Touraine, Renaud, Tumiene, Birute, Uguen, Kevin, Villard, Laurent

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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series by Lesieur‐Sebellin, Marion, Till, Marianne, Khau Van Kien, Philippe, Herve, Bérénice, Bourgon, Nicolas, Dupont, Céline, Tabet, Anne‐Claude, Barrois, Mathilde, Coussement, Aurélie, Loeuillet, Laurence, Mousty, Eve, Ea, Vuthy, Assal, Amal, Mary, Laura, Jaillard, Sylvie, Beneteau, Claire, Le Vaillant, Claudine, Coutton, Charles, Devillard, Françoise, Goumy, Carole, Delabaere, Amélie, Redon, Sylvia, Laurent, Yves, Lamouroux, Audrey, Massardier, Jérôme, Turleau, Catherine, Sanlaville, Damien, Cantagrel, Vincent, Sonigo, Pascale, Vialard, François, Salomon, Laurent J., Malan, Valérie

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3q29 duplications: A cohort of 46 patients and a literature review by Massier, Marie, Doco‐Fenzy, Martine, Egloff, Matthieu, Le Guillou, Xavier, Le Guyader, Gwenaël, Redon, Sylvia, Benech, Caroline, Le Millier, Karine, Uguen, Kevin, Ropars, Juliette, Sacaze, Elise, Audebert‐Bellanger, Séverine, Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Vincent‐Devulder, Aline, Spodenkiewicz, Marta, Jacquin, Clémence, Loron, Gauthier, Thibaud, Marie, Delplancq, Geoffroy, Brisset, Sophie, Lesieur‐Sebellin, Marion, Malan, Valérie, Romana, Serge, Rio, Marlène, Marlin, Sandrine, Amiel, Jeanne, Marquet, Valentine, Dauriat, Benjamin, Moradkhani, Kamran, Mercier, Sandra, Isidor, Bertrand, Arpin, Stéphanie, Pujalte, Mathilde, Jedraszak, Guillaume, Pebrel‐Richard, Céline, Salaun, Gaëlle, Laffargue, Fanny, Boudjarane, John, Missirian, Chantal, Chelloug, Nora, Toutain, Annick, Chiesa, Jean, Keren, Boris, Mignot, Cyril, Gouy, Evan, Jaillard, Sylvie, Landais, Emilie, Poirsier, Céline

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features by Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R, Zhou, Yijing, Bosch, Daniëlle Gm, van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlikova Pourova, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Bhoj, Elizabeth J, Harr, Margaret H, Lemire, Gabrielle, Boycott, Kym M, Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J, Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B, Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M, Motazacker, Mahdi M, Martinez-Agosto, Julian A, Rabani, Ahna M, McCormick, Elizabeth M, Falk, Marni J, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Tessarollo, Lino, Tomassoni Ardori, Francesco, Palko, Mary Ellen, Hsieh, Tzung-Chien, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange-Line, Quelin, Chloé, Misra, Vinod K, Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C, Shashi, Vandana

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Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature by Lesieur-Sebellin, Marion, Capri, Yline, Grisval, Margot, Courtin, Thomas, Burtz, Augustine, Thevenon, Julien, Buratti, Julien, Lejeune, Elodie, Faivre, Laurence, Keren, Boris

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Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion by Lesieur-Sebellin, Marion, Marzin, Pauline, Arnoux, Jean-Baptiste, Maurin, Marie-Laure, Receveur, Aline, Cantagrel, Vincent, Rose, Sylvia, Dorval, Guillaume, Levy, Jonathan, Malan, Valérie

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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly by Thomas, Quentin, Motta, Marialetizia, Gautier, Thierry, Zaki, Maha S., Ciolfi, Andrea, Paccaud, Julien, Girodon, François, Boespflug-Tanguy, Odile, Besnard, Thomas, Kerkhof, Jennifer, McConkey, Haley, Masson, Aymeric, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Trochu, Eva, Vignard, Virginie, El It, Fatima, Rodan, Lance H., Alkhateeb, Mohammad Ayman, Jamra, Rami Abou, Duplomb, Laurence, Tisserant, Emilie, Duffourd, Yannis, Bruel, Ange-Line, Jackson, Adam, Banka, Siddharth, McEntagart, Meriel, Saggar, Anand, Gleeson, Joseph G., Sievert, David, Bae, Hyunwoo, Lee, Beom Hee, Kwon, Kisang, Seo, Go Hun, Lee, Hane, Saeed, Anjum, Anjum, Nadeem, Cheema, Huma, Alawbathani, Salem, Khan, Imran, Pinto-Basto, Jorge, Teoh, Joyce, Wong, Jasmine, Sahari, Umar Bin Mohamad, Houlden, Henry, Zhelcheska, Kristina, Pannetier, Melanie, Awad, Mona A., Lesieur-Sebellin, Marion, Barcia, Giulia, Amiel, Jeanne, Delanne, Julian, Philippe, Christophe, Faivre, Laurence, Odent, Sylvie, Bertoli-Avella, Aida, Thauvin, Christel, Sadikovic, Bekim, Reversade, Bruno, Maroofian, Reza, Govin, Jérôme, Tartaglia, Marco, Vitobello, Antonio

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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series by Lesieur-Sebellin, Marion, Till, Marianne, Khau van Kien, Philippe, Herve, Bérénice, Bourgon, Nicolas, Dupont, Céline, Tabet, Anne‐claude, Barrois, Mathilde, Coussement, Aurélie, Loeuillet, Laurence, Mousty, Eve, Ea, Vuthy, Assal, Amal, Mary, Laura, Jaillard, Sylvie, Beneteau, Claire, Le Vaillant, Claudine, Coutton, Charles, Devillard, Françoise, Goumy, Carole, Delabaere, Amélie, Redon, Sylvia, Laurent, Yves, Lamouroux, Audrey, Massardier, Jérôme, Turleau, Catherine, Sanlaville, Damien, Cantagrel, Vincent, Sonigo, Pascale, Vialard, François, Salomon, Laurent, Malan, Valérie

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Association d’un marqueur surnuméraire et d’une isodisomie uniparentale paternelle du chromosome 6 chez un patient présentant un retard de développement syndromique by Lesieur-Sebellin, Marion, Marzin, Pauline, Arnoux, Jean-Baptiste, Maurin, Marie-Laure, Receveur, Aline, Cantagrel, Vincent, Rose, Sylvia, Dorval, Guillaume, Levy, Jonathan, Malan, Valérie

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